A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617773



Internal ID7004658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80260375..80272384hg38UCSC Ensembl
Innerchr8:80260875..80271884hg38UCSC Ensembl
Outerchr8:80259375..80273384hg38UCSC Ensembl
chr8:81172610..81184619hg19UCSC Ensembl
Innerchr8:81173110..81184119hg19UCSC Ensembl
Outerchr8:81171610..81185619hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg3812010
hg1912010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13238934, essv13238933
SamplesHG00284, HG00288
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617773
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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